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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal recessive chronic granulomatous disease cytochrome b-negative
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Accession:DOID:0070193 term browser browse the term
Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)
Synonyms:exact_synonym: CGD due to deficiency of the alpha subunit of cytochrome b;   CGD4;   CYBA Deficiency;   autosomal recessive chronic granulomatous disease 4;   autosomal recessive cytochrome b-negative CGD;   chronic granulomatous disease due to deficiency of CYBA;   chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B
 primary_id: MESH:C565533
 alt_id: OMIM:233690
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar Annotator: match by OMIM:233690
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 PMID:4384563 PMID:9445163 PMID:10440830 PMID:10759707 PMID:10910929 PMID:10914676 PMID:12073015 PMID:18422995 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:27537055 PMID:27980538 PMID:28492532 PMID:29454792 PMID:30470980 PMID:30709874 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      respiratory system disease 2711
        lung disease 1600
          chronic granulomatous disease 20
            autosomal recessive chronic granulomatous disease cytochrome b-negative 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            Infectious Skin Diseases 187
              cellulitis 34
                chronic granulomatous disease 20
                  autosomal recessive chronic granulomatous disease cytochrome b-negative 2
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